Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Tarbp2'

560823

Institutional Source

Beutler Lab

Gene Symbol

Tarbp2

Ensembl Gene

ENSMUSG00000023051

Gene Name

TARBP2, RISC loading complex RNA binding subunit

Synonyms

Prbp, TRBP

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102518192-102523676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102522487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 225 (H225R)

Ref Sequence

ENSEMBL: ENSMUSP00000023813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023813] [ENSMUST00000023814] [ENSMUST00000100168] [ENSMUST00000131184] [ENSMUST00000142194] [ENSMUST00000146756] [ENSMUST00000149200] [ENSMUST00000150393] [ENSMUST00000184772] [ENSMUST00000184906] [ENSMUST00000229805]

AlphaFold

P97473

Predicted Effect

probably benign
Transcript: ENSMUST00000023813
AA Change: H225R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023813
Gene: ENSMUSG00000023051
AA Change: H225R

Domain	Start	End	E-Value	Type
DSRM	31	96	6.65e-25	SMART
low complexity region	105	121	N/A	INTRINSIC
low complexity region	123	137	N/A	INTRINSIC
DSRM	159	225	9.21e-19	SMART
DSRM	293	359	9.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023814

SMART Domains

Protein: ENSMUSP00000023814
Gene: ENSMUSG00000023052

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:NPFF	24	114	3.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100168
AA Change: H134R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097744
Gene: ENSMUSG00000023051
AA Change: H134R

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
DSRM	68	134	9.21e-19	SMART
DSRM	202	268	9.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131184

SMART Domains

Protein: ENSMUSP00000117964
Gene: ENSMUSG00000023051

Domain	Start	End	E-Value	Type
DSRM	31	77	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142194
AA Change: H204R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123339
Gene: ENSMUSG00000023051
AA Change: H204R

Domain	Start	End	E-Value	Type
DSRM	10	75	6.65e-25	SMART
low complexity region	84	100	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
DSRM	138	204	9.21e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146756
AA Change: H204R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121748
Gene: ENSMUSG00000023051
AA Change: H204R

Domain	Start	End	E-Value	Type
DSRM	10	75	6.65e-25	SMART
low complexity region	84	100	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
DSRM	138	204	9.21e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149200

SMART Domains

Protein: ENSMUSP00000123213
Gene: ENSMUSG00000023051

Domain	Start	End	E-Value	Type
DSRM	10	56	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150393

SMART Domains

Protein: ENSMUSP00000120315
Gene: ENSMUSG00000023051

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	24	38	N/A	INTRINSIC
PDB:2CPN\|A	50	89	1e-22	PDB
Blast:DSRM	60	89	2e-14	BLAST
SCOP:d1di2a_	60	89	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154948

Predicted Effect

probably benign
Transcript: ENSMUST00000184772

SMART Domains

Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184906

SMART Domains

Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	6.32e-3	SMART
low complexity region	108	130	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	300	318	N/A	INTRINSIC
low complexity region	319	326	N/A	INTRINSIC
BRLZ	330	394	3.46e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229805

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (108/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in lethality at weaning, decreased body weight, and male infertility associated with oligozoospermia and failure of spermiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,953,333	V184A	probably benign	Het
4932415D10Rik	G	A	10: 82,293,414	T1254I	probably benign	Het
Aars2	A	G	17: 45,516,571	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,908,967	C136Y	probably damaging	Het
Aldh1l1	A	G	6: 90,570,800	K414R	probably benign	Het
Arl9	A	G	5: 77,007,271	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,786,473	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,287,800	Q66L	probably damaging	Het
Atp7b	A	T	8: 21,997,335	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,382,389	M437K	probably damaging	Het
Bap1	C	A	14: 31,254,169	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,512,905	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,292		probably null	Het
Btrc	A	G	19: 45,513,528		probably null	Het
C130050O18Rik	A	C	5: 139,414,374	I61L	probably benign	Het
Cfap161	A	G	7: 83,776,050	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,724,533	D512G	possibly damaging	Het
Chat	T	C	14: 32,419,057	D461G	probably damaging	Het
Chl1	T	A	6: 103,691,674	V456D	probably benign	Het
Cib1	T	C	7: 80,232,372	T20A	possibly damaging	Het
Cubn	T	G	2: 13,351,003	H1806P	probably benign	Het
Dapk1	T	A	13: 60,696,335	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,896,474	N1032D	probably benign	Het
Dlg5	T	A	14: 24,138,655	E1756V	probably damaging	Het
Dnah1	T	C	14: 31,274,382	T2666A	probably benign	Het
Dnah11	A	T	12: 118,045,522	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,173,545	E745V	probably benign	Het
Dock8	A	T	19: 25,181,563	N1695I	probably damaging	Het
Esf1	C	T	2: 140,164,219	R336Q	possibly damaging	Het
Fam161a	A	G	11: 23,021,664		probably null	Het
Fam89a	T	C	8: 124,751,679	E44G	possibly damaging	Het
Fndc3b	A	T	3: 27,456,485	D829E	probably benign	Het
Fxr1	C	T	3: 34,046,540	T125I	possibly damaging	Het
Gfer	T	C	17: 24,695,862	D69G	probably damaging	Het
Gm16486	A	T	8: 70,716,948	E1229V	probably benign	Het
Gm2000	A	T	1: 156,366,087	I4F	probably damaging	Het
Gpatch2l	T	A	12: 86,288,937	S471T	probably benign	Het
Grm7	T	G	6: 111,358,569	I647S	possibly damaging	Het
Gsn	A	G	2: 35,298,795	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234	L46F	possibly damaging	Het
Hao2	A	C	3: 98,877,282		probably null	Het
Ifitm10	T	C	7: 142,328,568	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,386,810	W76L	probably benign	Het
Igsf21	A	T	4: 140,107,337	F75I	possibly damaging	Het
Ints14	T	A	9: 64,964,419	M13K	probably damaging	Het
Ipmk	A	T	10: 71,363,468	D53V	possibly damaging	Het
Itga8	A	G	2: 12,230,095	F451L	possibly damaging	Het
Jup	A	G	11: 100,381,734	F284S	probably damaging	Het
Kctd5	T	C	17: 24,073,235	D65G	probably benign	Het
Klrc1	A	T	6: 129,677,221	S148T	probably benign	Het
Kmt5b	A	G	19: 3,814,147	K404E	probably damaging	Het
Krt9	A	C	11: 100,190,791	M304R	probably damaging	Het
Krtap5-1	A	T	7: 142,296,562	S143T	unknown	Het
Kyat3	A	G	3: 142,720,401	N68D	probably damaging	Het
Kynu	A	G	2: 43,681,353	D427G	probably damaging	Het
Leo1	A	G	9: 75,445,996		probably null	Het
Loxhd1	A	G	18: 77,414,196	D1737G	probably damaging	Het
Lpo	C	A	11: 87,809,251	L521F	possibly damaging	Het
Lrrk1	A	G	7: 66,270,825	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,243,601	L14M	probably damaging	Het
Ly75	G	A	2: 60,323,852	R1084*	probably null	Het
Mcf2l	A	G	8: 13,010,456	D764G	probably benign	Het
Mrgprd	A	T	7: 145,322,349	D319V	probably benign	Het
Mut	A	T	17: 40,938,673	M180L	probably benign	Het
Myom3	T	C	4: 135,795,179	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,184,328	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,317,534	D868G	probably damaging	Het
Npy6r	A	G	18: 44,275,932	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,539,872	K196E	probably benign	Het
Nup88	T	C	11: 70,945,254	K532R	probably benign	Het
Olfr424	T	A	1: 174,137,114	Y123*	probably null	Het
Olfr947-ps1	A	T	9: 39,289,293	I199N	unknown	Het
Olfr974	T	A	9: 39,942,509	V83E	probably benign	Het
Pbxip1	A	T	3: 89,447,428	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,509,944	R761S	possibly damaging	Het
Phf10	A	T	17: 14,946,313	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,121,459	D1271G	probably damaging	Het
Plin1	A	T	7: 79,723,444	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,239,794	Q132L	unknown	Het
Ppa2	A	T	3: 133,330,438	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,410,978	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,098,701	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,574,189	V179D	probably damaging	Het
Prr14l	A	G	5: 32,827,145	F1669L	probably benign	Het
Prrg4	T	A	2: 104,839,442	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,958,876	H495Q	unknown	Het
Rgl2	C	T	17: 33,933,429	R367W	probably damaging	Het
Rpe65	A	G	3: 159,622,854	Y433C	probably damaging	Het
Rtn4rl1	C	T	11: 75,265,750	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,748,319	D1446G	probably benign	Het
Sdk1	C	A	5: 142,046,176	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,330,661	S409P	probably benign	Het
Sowahc	A	G	10: 59,222,278	T79A	probably benign	Het
Stk35	T	A	2: 129,801,593	C166S	probably benign	Het
Tdrd12	T	A	7: 35,489,223	K530*	probably null	Het
Terf2ip	A	G	8: 112,017,986	I312V	probably benign	Het
Tgfb1	T	C	7: 25,692,539		probably null	Het
Thbs2	T	C	17: 14,671,458	D939G	probably damaging	Het
Ube4b	A	T	4: 149,398,610	I67K	probably benign	Het
Ubn1	G	T	16: 5,077,216	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,128,399	K339E	possibly damaging	Het
Vax2	T	C	6: 83,737,900	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,462,776	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,441,315	K441R	probably benign	Het
Wapl	C	A	14: 34,736,691	D903E	probably benign	Het
Wee1	T	A	7: 110,134,794	V442D	probably benign	Het
Zan	T	C	5: 137,434,096	N2313S	unknown	Het

Other mutations in Tarbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02337:Tarbp2	APN	15	102521993	missense	probably damaging	1.00
R2518:Tarbp2	UTSW	15	102518557	missense	possibly damaging	0.86
R6459:Tarbp2	UTSW	15	102518479	start gained	probably benign
R7478:Tarbp2	UTSW	15	102521734	missense	probably benign
R8737:Tarbp2	UTSW	15	102521767	missense	probably benign	0.00
R9188:Tarbp2	UTSW	15	102522511	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGAGCTCCTCTTTGCAGTGG -3'
(R):5'- TGACCCTACATATAGGCTGAGGG -3'

Sequencing Primer
(F):5'- CAGTGGTATCTCATTGGGTGAC -3'
(R):5'- CCTACATATAGGCTGAGGGGACTTC -3'

Posted On

2019-06-26